{"entity": "researcher", "timestamp": "2026-08-20T21:36:17.253Z", "family": "Swofford", "given": "Ross", "initials": "R", "orcid": "0000-0003-3676-8479", "affiliations": ["Broad Institute of MIT and Harvard, Cambridge, MA 02142."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/85b0174c633b417b933092763175bb1c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/85b0174c633b417b933092763175bb1c"}}, "publications": [{"entity": "publication", "iuid": "9b6c299c3be9475c925b30a7b62e0588", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9b6c299c3be9475c925b30a7b62e0588.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9b6c299c3be9475c925b30a7b62e0588"}}, "title": "Data from Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions", "authors": [{"family": "Kim", "given": "Jong Hyuk", "initials": "JH", "orcid": "0000-0002-1645-0036", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3553b69d2420463ca6a24d52696a7da7.json"}}, {"family": "Megquier", "given": "Kate", "initials": "K", "orcid": "0000-0002-1458-0865", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d84d6a467fac40d5a926885732eca967.json"}}, {"family": "Thomas", "given": "Rachael", "initials": "R", "orcid": "0000-0002-3029-8798", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7613e07c9b242748a912e2ab73a5542.json"}}, {"family": "Sarver", "given": "Aaron L", "initials": "AL"}, {"family": "Song", "given": "Jung Min", "initials": "JM"}, {"family": "Kim", "given": "Yoon Tae", "initials": "YT"}, {"family": "Cheng", "given": "Nuojin", "initials": "N"}, {"family": "Schulte", "given": "Ashley J", "initials": "AJ"}, {"family": "Linden", "given": "Michael A", "initials": "MA"}, {"family": "Murugan", "given": "Paari", "initials": "P", "orcid": "0000-0003-4706-213X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b6bf0a99d52e4f5abed4fad7da3c8e02.json"}}, {"family": "Oseth", "given": "LeAnn", "initials": "L"}, {"family": "Forster", "given": "Colleen L", "initials": "CL"}, {"family": "Elvers", "given": "Ingegerd", "initials": "I"}, {"family": "Swofford", "given": "Ross", "initials": "R", "orcid": "0000-0003-3676-8479", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/85b0174c633b417b933092763175bb1c.json"}}, {"family": "Turner-Maier", "given": "Jason", "initials": "J"}, {"family": "Karlsson", "given": "Elinor K", "initials": "EK", "orcid": "0000-0002-4343-3776", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b5c82fcb904394b6a6b1d811863fa0.json"}}, {"family": "Breen", "given": "Matthew", "initials": "M"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Modiano", "given": "Jaime F", "initials": "JF", "orcid": "0000-0001-6398-7648", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7ba4bb579a21472dab716ebf61874801.json"}}], "type": "posted-content", "published": "2023-04-03", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1158/1541-7786.c.6545168.v1", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T12:14:04.142Z", "modified": "2026-08-20T12:14:04.329Z"}, {"entity": "publication", "iuid": "d05f4aeea1d543a6818bf3faaf86357e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d05f4aeea1d543a6818bf3faaf86357e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d05f4aeea1d543a6818bf3faaf86357e"}}, "title": "Genomically Complex Human Angiosarcoma and Canine Hemangiosarcoma Establish Convergent Angiogenic Transcriptional Programs Driven by Novel Gene Fusions.", "authors": [{"family": "Kim", "given": "Jong Hyuk", "initials": "JH", "orcid": "0000-0002-1645-0036", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3553b69d2420463ca6a24d52696a7da7.json"}}, {"family": "Megquier", "given": "Kate", "initials": "K", "orcid": "0000-0002-1458-0865", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d84d6a467fac40d5a926885732eca967.json"}}, {"family": "Thomas", "given": "Rachael", "initials": "R", "orcid": "0000-0002-3029-8798", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7613e07c9b242748a912e2ab73a5542.json"}}, {"family": "Sarver", "given": "Aaron L", "initials": "AL"}, {"family": "Song", "given": "Jung Min", "initials": "JM"}, {"family": "Kim", "given": "Yoon Tae", "initials": "YT"}, {"family": "Cheng", "given": "Nuojin", "initials": "N"}, {"family": "Schulte", "given": "Ashley J", "initials": "AJ"}, {"family": "Linden", "given": "Michael A", "initials": "MA"}, {"family": "Murugan", "given": "Paari", "initials": "P", "orcid": "0000-0003-4706-213X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b6bf0a99d52e4f5abed4fad7da3c8e02.json"}}, {"family": "Oseth", "given": "LeAnn", "initials": "L"}, {"family": "Forster", "given": "Colleen L", "initials": "CL"}, {"family": "Elvers", "given": "Ingegerd", "initials": "I"}, {"family": "Swofford", "given": "Ross", "initials": "R", "orcid": "0000-0003-3676-8479", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/85b0174c633b417b933092763175bb1c.json"}}, {"family": "Turner-Maier", "given": "Jason", "initials": "J"}, {"family": "Karlsson", "given": "Elinor K", "initials": "EK", "orcid": "0000-0002-4343-3776", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b5c82fcb904394b6a6b1d811863fa0.json"}}, {"family": "Breen", "given": "Matthew", "initials": "M"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Modiano", "given": "Jaime F", "initials": "JF", "orcid": "0000-0001-6398-7648", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7ba4bb579a21472dab716ebf61874801.json"}}], "type": "journal article", "published": "2021-05-00", "journal": {"title": "Mol. Cancer Res.", "issn": "1557-3125", "volume": "19", "issue": "5", "pages": "847-861", "issn-l": "1541-7786"}, "abstract": "Sporadic angiosarcomas are aggressive vascular sarcomas whose rarity and genomic complexity present significant obstacles in deciphering the pathogenic significance of individual genetic alterations. Numerous fusion genes have been identified across multiple types of cancers, but their existence and significance remain unclear in sporadic angiosarcomas. In this study, we leveraged RNA-sequencing data from 13 human angiosarcomas and 76 spontaneous canine hemangiosarcomas to identify fusion genes associated with spontaneous vascular malignancies. Ten novel protein-coding fusion genes, including TEX2-PECAM1 and ATP8A2-FLT1, were identified in seven of the 13 human tumors, with two tumors showing mutations of TP53. HRAS and NRAS mutations were found in angiosarcomas without fusions or TP53 mutations. We found 15 novel protein-coding fusion genes including MYO16-PTK2, GABRA3-FLT1, and AKT3-XPNPEP1 in 11 of the 76 canine hemangiosarcomas; these fusion genes were seen exclusively in tumors of the angiogenic molecular subtype that contained recurrent mutations in TP53, PIK3CA, PIK3R1, and NRAS. In particular, fusion genes and mutations of TP53 cooccurred in tumors with higher frequency than expected by random chance, and they enriched gene signatures predicting activation of angiogenic pathways. Comparative transcriptomic analysis of human angiosarcomas and canine hemangiosarcomas identified shared molecular signatures associated with activation of PI3K/AKT/mTOR pathways. Our data suggest that genome instability induced by TP53 mutations might create a predisposition for fusion events that may contribute to tumor progression by promoting selection and/or enhancing fitness through activation of convergent angiogenic pathways in this vascular malignancy. IMPLICATIONS: This study shows that, while drive events of malignant vasoformative tumors of humans and dogs include diverse mutations and stochastic rearrangements that create novel fusion genes, convergent transcriptional programs govern the highly conserved morphologic organization and biological behavior of these tumors in both species.", "doi": "10.1158/1541-7786.MCR-20-0937", "pmid": "33649193", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1675846"}, {"db": "pmc", "key": "PMC8137578"}, {"db": "pii", "key": "1541-7786.MCR-20-0937"}], "notes": [], "created": "2026-08-20T12:14:23.333Z", "modified": "2026-08-20T12:14:23.423Z"}, {"entity": "publication", "iuid": "b8f68b45bcd643d784b9cf62a589160d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b8f68b45bcd643d784b9cf62a589160d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b8f68b45bcd643d784b9cf62a589160d"}}, "title": "Broad host range of SARS-CoV-2 predicted by comparative and structural analysis of ACE2 in vertebrates.", "authors": [{"family": "Damas", "given": "Joana", "initials": "J", "orcid": "0000-0003-4857-2510", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f60eb6afeabc435ea1e6378786162fa8.json"}}, {"family": "Hughes", "given": "Graham M", "initials": "GM", "orcid": "0000-0003-3088-345X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9785e94b95a3466dbb70ad8eb9b34ccd.json"}}, {"family": "Keough", "given": "Kathleen C", "initials": "KC", "orcid": "0000-0002-7481-0511", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/27ba6707b77e4d0eb914e71063dab333.json"}}, {"family": "Painter", "given": "Corrie A", "initials": "CA", "orcid": "0000-0001-6174-1548", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d8344bb3d42144f98f550aa8f83e42d7.json"}}, {"family": "Persky", "given": "Nicole S", "initials": "NS", "orcid": "0000-0002-9948-2761", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed0fc24668b242f1ab1c772856f17d24.json"}}, {"family": "Corbo", "given": "Marco", "initials": "M", "orcid": "0000-0002-4566-2724", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8133d835c1ec4fe4937748d71a6794e8.json"}}, {"family": "Hiller", "given": "Michael", "initials": "M", "orcid": "0000-0003-3024-1449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1005d0d1f4264b46b1cfe214c7aca246.json"}}, {"family": "Koepfli", "given": "Klaus-Peter", "initials": "KP", "orcid": "0000-0001-7281-0676", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/90e8966ff0e04ca391070664d52cdf04.json"}}, {"family": "Pfenning", "given": "Andreas R", "initials": "AR", "orcid": "0000-0002-3447-9801", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f7c2be6e32147d19f03c7ff88fb3f80.json"}}, {"family": "Zhao", "given": "Huabin", "initials": "H", "orcid": "0000-0002-7848-6392", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ce72657ddbab4665991d934bf3ccfdbe.json"}}, {"family": "Genereux", "given": "Diane P", "initials": "DP", "orcid": "0000-0001-5770-0989", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/352ee25047c544aaa486a69e7e3333fc.json"}}, {"family": "Swofford", "given": "Ross", "initials": "R", "orcid": "0000-0003-3676-8479", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/85b0174c633b417b933092763175bb1c.json"}}, {"family": "Pollard", "given": "Katherine S", "initials": "KS", "orcid": "0000-0002-9870-6196", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d080bc9bff548958f0c161612cdc4cf.json"}}, {"family": "Ryder", "given": "Oliver A", "initials": "OA", "orcid": "0000-0003-2427-763X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d18635ed6fa42d4bbcfddadae70e308.json"}}, {"family": "Nweeia", "given": "Martin T", "initials": "MT", "orcid": "0000-0001-7079-4123", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b4846b6d146a4a7288db1543583a0158.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/612a779b69494f1ca9b6c5f1d84fd711.json"}}, {"family": "Teeling", "given": "Emma C", "initials": "EC", "orcid": "0000-0002-3309-1346", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/28069443db794cb596e58aea060d9dea.json"}}, {"family": "Karlsson", "given": "Elinor K", "initials": "EK", "orcid": "0000-0002-4343-3776", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b5c82fcb904394b6a6b1d811863fa0.json"}}, {"family": "Lewin", "given": "Harris A", "initials": "HA", "orcid": "0000-0002-1043-7287", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5059da24204049c696aec45b62526759.json"}}], "type": "comparative study", "published": "2020-09-08", "journal": {"title": "Proc. Natl. Acad. Sci. U.S.A.", "issn": "1091-6490", "volume": "117", "issue": "36", "pages": "22311-22322", "issn-l": "0027-8424"}, "abstract": "The novel coronavirus severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of COVID-19. The main receptor of SARS-CoV-2, angiotensin I converting enzyme 2 (ACE2), is now undergoing extensive scrutiny to understand the routes of transmission and sensitivity in different species. Here, we utilized a unique dataset of ACE2 sequences from 410 vertebrate species, including 252 mammals, to study the conservation of ACE2 and its potential to be used as a receptor by SARS-CoV-2. We designed a five-category binding score based on the conservation properties of 25 amino acids important for the binding between ACE2 and the SARS-CoV-2 spike protein. Only mammals fell into the medium to very high categories and only catarrhine primates into the very high category, suggesting that they are at high risk for SARS-CoV-2 infection. We employed a protein structural analysis to qualitatively assess whether amino acid changes at variable residues would be likely to disrupt ACE2/SARS-CoV-2 spike protein binding and found the number of predicted unfavorable changes significantly correlated with the binding score. Extending this analysis to human population data, we found only rare (frequency <0.001) variants in 10/25 binding sites. In addition, we found significant signals of selection and accelerated evolution in the ACE2 coding sequence across all mammals, and specific to the bat lineage. Our results, if confirmed by additional experimental data, may lead to the identification of intermediate host species for SARS-CoV-2, guide the selection of animal models of COVID-19, and assist the conservation of animals both in native habitats and in human care.", "doi": "10.1073/pnas.2010146117", "pmid": "32826334", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7486773"}, {"db": "pii", "key": "2010146117"}], "notes": [], "created": "2026-08-20T09:30:48.684Z", "modified": "2026-08-20T09:30:49.333Z"}]}